Accessing medically relevant complex regions with a pangenome graph of 20 near-complete Japanese haplotypes.

Abstract excerpt

Pangenome projects have enhanced our understanding of human genomic and genetic diversity, but repetitive regions are still challenging to assemble and yet medically important. Here we generate 20 near-complete haplotypes from 10 Japanese male individuals using three complementary long-read and long-range datasets and construct a pangenome graph from these haplotype-resolved assemblies. All haplotypes achieve an...

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